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P51797

- CLCN6_HUMAN

UniProt

P51797 - CLCN6_HUMAN

Protein

Chloride transport protein 6

Gene

CLCN6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 137 (01 Oct 2014)
      Sequence version 2 (02 Nov 2010)
      Previous versions | rss
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    Functioni

    Chloride transport protein, initially identified as voltage-gated chloride channel. The presence of the conserved gating glutamate residues suggests that is functions as antiporter.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei157 – 1571ChlorideBy similarity
    Sitei200 – 2001Mediates proton transfer from the outer aqueous phase to the interior of the protein; involved in linking H(+) and Cl(-) transportBy similarity
    Sitei267 – 2671Mediates proton transfer from the protein to the inner aqueous phaseBy similarity
    Binding sitei489 – 4891Chloride; via amide nitrogenBy similarity
    Binding sitei576 – 5761ChlorideBy similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi630 – 6323ATPBy similarity
    Nucleotide bindingi849 – 8524ATPBy similarity

    GO - Molecular functioni

    1. antiporter activity Source: UniProtKB-KW
    2. ATP binding Source: UniProtKB-KW
    3. voltage-gated chloride channel activity Source: UniProtKB

    GO - Biological processi

    1. cell volume homeostasis Source: UniProtKB
    2. chloride transport Source: UniProtKB
    3. ion transmembrane transport Source: Reactome
    4. regulation of anion transport Source: GOC
    5. response to mechanical stimulus Source: Ensembl
    6. signal transduction Source: UniProtKB
    7. transmembrane transport Source: Reactome

    Keywords - Biological processi

    Antiport, Ion transport, Transport

    Keywords - Ligandi

    ATP-binding, Chloride, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_160189. Stimuli-sensing channels.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Chloride transport protein 6
    Alternative name(s):
    Chloride channel protein 6
    Short name:
    ClC-6
    Gene namesi
    Name:CLCN6
    Synonyms:KIAA0046
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:2024. CLCN6.

    Subcellular locationi

    Endosome membrane 1 Publication; Multi-pass membrane protein 1 Publication
    Note: Detected in detergent-resistant lipid rafts.

    GO - Cellular componenti

    1. endosome membrane Source: Reactome
    2. integral component of membrane Source: UniProtKB
    3. lysosomal membrane Source: UniProtKB

    Keywords - Cellular componenti

    Endosome, Membrane

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi410 – 4101N → A: Abolishes N-glycosylation; when associated with A-422 and A-432. 1 Publication
    Mutagenesisi422 – 4221N → A: Abolishes N-glycosylation; when associated with A-410 and A-432. 1 Publication
    Mutagenesisi432 – 4321N → A: Abolishes N-glycosylation; when associated with A-410 and A-422. 1 Publication

    Organism-specific databases

    PharmGKBiPA26551.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 869869Chloride transport protein 6PRO_0000094449Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi410 – 4101N-linked (GlcNAc...)1 Publication
    Glycosylationi422 – 4221N-linked (GlcNAc...)1 Publication
    Glycosylationi432 – 4321N-linked (GlcNAc...)1 Publication

    Post-translational modificationi

    N-glycosylated on several asparagine residues.1 Publication

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiP51797.
    PaxDbiP51797.
    PRIDEiP51797.

    PTM databases

    PhosphoSiteiP51797.

    Expressioni

    Tissue specificityi

    Testis, ovary, small intestine, brain and skeletal muscle. Low level expression in aortic and coronary vascular smooth muscle cells, and aortic endothelial cells. Isoform 3 is only detected in kidney.3 Publications

    Gene expression databases

    ArrayExpressiP51797.
    BgeeiP51797.
    GenevestigatoriP51797.

    Organism-specific databases

    HPAiHPA032097.

    Interactioni

    Protein-protein interaction databases

    BioGridi107599. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliP51797.
    SMRiP51797. Positions 87-639, 810-855.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 8080CytoplasmicBy similarityAdd
    BLAST
    Topological domaini572 – 869298CytoplasmicBy similarityAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei159 – 1668HelicalBy similarity
    Intramembranei241 – 25313HelicalBy similarityAdd
    BLAST
    Intramembranei257 – 2659HelicalBy similarity
    Intramembranei519 – 53315HelicalBy similarityAdd
    BLAST
    Intramembranei534 – 5363Note=Loop between two helicesBy similarity
    Intramembranei537 – 54812HelicalBy similarityAdd
    BLAST
    Intramembranei549 – 5524Note=Loop between two helicesBy similarity

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei81 – 11333HelicalBy similarityAdd
    BLAST
    Transmembranei128 – 15023HelicalBy similarityAdd
    BLAST
    Transmembranei176 – 19419HelicalBy similarityAdd
    BLAST
    Transmembranei200 – 21718HelicalBy similarityAdd
    BLAST
    Transmembranei277 – 29418HelicalBy similarityAdd
    BLAST
    Transmembranei335 – 36430HelicalBy similarityAdd
    BLAST
    Transmembranei371 – 39222HelicalBy similarityAdd
    BLAST
    Transmembranei462 – 48120HelicalBy similarityAdd
    BLAST
    Transmembranei487 – 51125HelicalBy similarityAdd
    BLAST
    Transmembranei553 – 57119HelicalBy similarityAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini605 – 66258CBS 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini807 – 86862CBS 2PROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi156 – 1605Selectivity filter part_1By similarity
    Motifi198 – 2025Selectivity filter part_2By similarity
    Motifi487 – 4915Selectivity filter part_3By similarity

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi4 – 1815Cys-richAdd
    BLAST

    Sequence similaritiesi

    Contains 2 CBS domains.PROSITE-ProRule annotation

    Keywords - Domaini

    CBS domain, Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0038.
    HOVERGENiHBG050985.
    KOiK05015.
    OMAiSLCCCCR.
    OrthoDBiEOG7D2FD0.
    PhylomeDBiP51797.
    TreeFamiTF313867.

    Family and domain databases

    Gene3Di1.10.3080.10. 2 hits.
    InterProiIPR000644. CBS_dom.
    IPR014743. Cl-channel_core.
    IPR001807. Cl-channel_volt-gated.
    IPR002248. Cl_channel-6.
    [Graphical view]
    PfamiPF00571. CBS. 1 hit.
    PF00654. Voltage_CLC. 1 hit.
    [Graphical view]
    PRINTSiPR00762. CLCHANNEL.
    PR01117. CLCHANNEL6.
    SMARTiSM00116. CBS. 2 hits.
    [Graphical view]
    SUPFAMiSSF81340. SSF81340. 2 hits.
    PROSITEiPS51371. CBS. 2 hits.
    [Graphical view]

    Sequences (6)i

    Sequence statusi: Complete.

    This entry describes 6 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P51797-1) [UniParc]FASTAAdd to Basket

    Also known as: A, Clc-6a

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAGCRGSLCC CCRWCCCCGE RETRTPEELT ILGETQEEED EILPRKDYES    50
    LDYDRCINDP YLEVLETMDN KKGRRYEAVK WMVVFAIGVC TGLVGLFVDF 100
    FVRLFTQLKF GVVQTSVEEC SQKGCLALSL LELLGFNLTF VFLASLLVLI 150
    EPVAAGSGIP EVKCYLNGVK VPGIVRLRTL LCKVLGVLFS VAGGLFVEKE 200
    GPMIHSGSVV GAGLPQFQSI SLRKIQFNFP YFRSDRDKRD FVSAGAAAGV 250
    AAAFGAPIGG TLFSLEEGSS FWNQGLTWKV LFCSMSATFT LNFFRSGIQF 300
    GSWGSFQLPG LLNFGEFKCS DSDKKCHLWT AMDLGFFVVM GVIGGLLGAT 350
    FNCLNKRLAK YRMRNVHPKP KLVRVLESLL VSLVTTVVVF VASMVLGECR 400
    QMSSSSQIGN DSFQLQVTED VNSSIKTFFC PNDTYNDMAT LFFNPQESAI 450
    LQLFHQDGTF SPVTLALFFV LYFLLACWTY GISVPSGLFV PSLLCGAAFG 500
    RLVANVLKSY IGLGHIYSGT FALIGAAAFL GGVVRMTISL TVILIESTNE 550
    ITYGLPIMVT LMVAKWTGDF FNKGIYDIHV GLRGVPLLEW ETEVEMDKLR 600
    ASDIMEPNLT YVYPHTRIQS LVSILRTTVH HAFPVVTENR GNEKEFMKGN 650
    QLISNNIKFK KSSILTRAGE QRKRSQSMKS YPSSELRNMC DEHIASEEPA 700
    EKEDLLQQML ERRYTPYPNL YPDQSPSEDW TMEERFRPLT FHGLILRSQL 750
    VTLLVRGVCY SESQSSASQP RLSYAEMAED YPRYPDIHDL DLTLLNPRMI 800
    VDVTPYMNPS PFTVSPNTHV SQVFNLFRTM GLRHLPVVNA VGEIVGIITR 850
    HNLTYEFLQA RLRQHYQTI 869
    Length:869
    Mass (Da):97,289
    Last modified:November 2, 2010 - v2
    Checksum:iD625F0C2189EB6F7
    GO
    Isoform 2 (identifier: P51797-2) [UniParc]FASTAAdd to Basket

    Also known as: B, ClC-6b, D2-A1

    The sequence of this isoform differs from the canonical sequence as follows:
         237-320: DKRDFVSAGA...LLNFGEFKCS → YGKRQERLCI...APWIAELWRV
         321-869: Missing.

    Show »
    Length:320
    Mass (Da):36,006
    Checksum:i68604EBB1B15E8CA
    GO
    Isoform 3 (identifier: P51797-3) [UniParc]FASTAAdd to Basket

    Also known as: C, ClC-6c, D1-A1

    The sequence of this isoform differs from the canonical sequence as follows:
         319-353: CSDSDKKCHLWTAMDLGFFVVMGVIGGLLGATFNC → SLREPPCVSGNHRGGVCGLDGVRRMPTDVLFESNR
         354-869: Missing.

    Show »
    Length:353
    Mass (Da):38,814
    Checksum:i078D3E8A2C013E94
    GO
    Isoform 4 (identifier: P51797-4) [UniParc]FASTAAdd to Basket

    Also known as: D, ClC-6d, D1-A2

    The sequence of this isoform differs from the canonical sequence as follows:
         237-308: DKRDFVSAGA...QFGSWGSFQL → SGCWSCCSFR...APWIAELWRV
         309-869: Missing.

    Show »
    Length:308
    Mass (Da):34,515
    Checksum:i60C3293CAC95D6BE
    GO
    Isoform 5 (identifier: P51797-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         844-869: IVGIITRHNLTYEFLQARLRQHYQTI → VSEAPALPPP...LHLRRDLRIR

    Note: No experimental confirmation available.

    Show »
    Length:953
    Mass (Da):106,376
    Checksum:i5503065172532131
    GO
    Isoform 6 (identifier: P51797-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         50-71: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:847
    Mass (Da):94,660
    Checksum:i00E66C8453C4B6F6
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti19 – 191G → S in BAG57898. (PubMed:14702039)Curated
    Sequence conflicti92 – 921G → D in BAG57898. (PubMed:14702039)Curated
    Sequence conflicti442 – 4421F → S in BAG57898. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti198 – 1981E → G.7 Publications
    Corresponds to variant rs198400 [ dbSNP | Ensembl ].
    VAR_023051

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei50 – 7122Missing in isoform 6. 1 PublicationVSP_047169Add
    BLAST
    Alternative sequencei237 – 32084DKRDF…EFKCS → YGKRQERLCISRSGCWSCCS FRGANRGYLVQSRGGFVLLE PRAHVESALLFHVCHLHPQL LPFWDSVWKLGFLPAPWIAE LWRV in isoform 2. 1 PublicationVSP_001043Add
    BLAST
    Alternative sequencei237 – 30872DKRDF…GSFQL → SGCWSCCSFRGANRGYLVQS RGGFVLLEPRAHVESALLFH VCHLHPQLLPFWDSVWKLGF LPAPWIAELWRV in isoform 4. 1 PublicationVSP_001047Add
    BLAST
    Alternative sequencei309 – 869561Missing in isoform 4. 1 PublicationVSP_001048Add
    BLAST
    Alternative sequencei319 – 35335CSDSD…ATFNC → SLREPPCVSGNHRGGVCGLD GVRRMPTDVLFESNR in isoform 3. 1 PublicationVSP_001045Add
    BLAST
    Alternative sequencei321 – 869549Missing in isoform 2. 1 PublicationVSP_001044Add
    BLAST
    Alternative sequencei354 – 869516Missing in isoform 3. 1 PublicationVSP_001046Add
    BLAST
    Alternative sequencei844 – 86926IVGII…HYQTI → VSEAPALPPPLREDPLARCC LCTQASHQKRRHPTRRGECG PTLALNPARLPCTRDPFPCL PADGTSVPLAVLSSQSRAST RLCLPPEMLLFTPYHWCSLV LHLRRDLRIR in isoform 5. CuratedVSP_017188Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X83378 mRNA. Translation: CAA58292.1.
    X96391 mRNA. Translation: CAA65255.1.
    X99472 Genomic DNA. Translation: CAA67835.1.
    X99473 mRNA. Translation: CAA67836.1.
    X99474 mRNA. Translation: CAA67837.1.
    X99475 mRNA. Translation: CAA67838.1.
    AF009257
    , AF009247, AF009248, AF009249, AF009250, AF009251, AF009252, AF009253, AF009254, AF009255, AF009256 Genomic DNA. Translation: AAB69287.1.
    D28475 mRNA. Translation: BAA05836.4.
    AK289999 mRNA. Translation: BAF82688.1.
    AK294764 mRNA. Translation: BAG57898.1.
    AL953897, AL021155 Genomic DNA. Translation: CAI15891.1.
    AL953897, AL021155 Genomic DNA. Translation: CAI15892.1.
    AL953897, AL021155 Genomic DNA. Translation: CAI15893.1.
    AL953897, AL021155 Genomic DNA. Translation: CAI15894.1.
    AL953897, AL021155 Genomic DNA. Translation: CAI15895.1.
    AL021155, AL953897 Genomic DNA. Translation: CAI23402.1.
    AL021155, AL953897 Genomic DNA. Translation: CAI23403.1.
    AL021155, AL953897 Genomic DNA. Translation: CAI23404.1.
    AL021155, AL953897 Genomic DNA. Translation: CAI23405.1.
    AL021155, AL953897 Genomic DNA. Translation: CAI23406.1.
    CH471130 Genomic DNA. Translation: EAW71715.1.
    BC117420 mRNA. Translation: AAI17421.1.
    BC117424 mRNA. Translation: AAI17425.1.
    CCDSiCCDS138.1. [P51797-1]
    CCDS57972.1. [P51797-6]
    PIRiS68428.
    RefSeqiNP_001243888.1. NM_001256959.1.
    NP_001277.1. NM_001286.3.
    UniGeneiHs.193043.

    Genome annotation databases

    EnsembliENST00000312413; ENSP00000308367; ENSG00000011021. [P51797-3]
    ENST00000346436; ENSP00000234488; ENSG00000011021. [P51797-1]
    ENST00000376496; ENSP00000365679; ENSG00000011021. [P51797-5]
    GeneIDi1185.
    KEGGihsa:1185.
    UCSCiuc001ate.5. human. [P51797-1]
    uc009vnf.2. human. [P51797-2]
    uc009vng.2. human. [P51797-4]
    uc009vnh.2. human. [P51797-3]

    Polymorphism databases

    DMDMi311033364.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X83378 mRNA. Translation: CAA58292.1 .
    X96391 mRNA. Translation: CAA65255.1 .
    X99472 Genomic DNA. Translation: CAA67835.1 .
    X99473 mRNA. Translation: CAA67836.1 .
    X99474 mRNA. Translation: CAA67837.1 .
    X99475 mRNA. Translation: CAA67838.1 .
    AF009257
    , AF009247 , AF009248 , AF009249 , AF009250 , AF009251 , AF009252 , AF009253 , AF009254 , AF009255 , AF009256 Genomic DNA. Translation: AAB69287.1 .
    D28475 mRNA. Translation: BAA05836.4 .
    AK289999 mRNA. Translation: BAF82688.1 .
    AK294764 mRNA. Translation: BAG57898.1 .
    AL953897 , AL021155 Genomic DNA. Translation: CAI15891.1 .
    AL953897 , AL021155 Genomic DNA. Translation: CAI15892.1 .
    AL953897 , AL021155 Genomic DNA. Translation: CAI15893.1 .
    AL953897 , AL021155 Genomic DNA. Translation: CAI15894.1 .
    AL953897 , AL021155 Genomic DNA. Translation: CAI15895.1 .
    AL021155 , AL953897 Genomic DNA. Translation: CAI23402.1 .
    AL021155 , AL953897 Genomic DNA. Translation: CAI23403.1 .
    AL021155 , AL953897 Genomic DNA. Translation: CAI23404.1 .
    AL021155 , AL953897 Genomic DNA. Translation: CAI23405.1 .
    AL021155 , AL953897 Genomic DNA. Translation: CAI23406.1 .
    CH471130 Genomic DNA. Translation: EAW71715.1 .
    BC117420 mRNA. Translation: AAI17421.1 .
    BC117424 mRNA. Translation: AAI17425.1 .
    CCDSi CCDS138.1. [P51797-1 ]
    CCDS57972.1. [P51797-6 ]
    PIRi S68428.
    RefSeqi NP_001243888.1. NM_001256959.1.
    NP_001277.1. NM_001286.3.
    UniGenei Hs.193043.

    3D structure databases

    ProteinModelPortali P51797.
    SMRi P51797. Positions 87-639, 810-855.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107599. 1 interaction.

    Chemistry

    GuidetoPHARMACOLOGYi 705.

    PTM databases

    PhosphoSitei P51797.

    Polymorphism databases

    DMDMi 311033364.

    Proteomic databases

    MaxQBi P51797.
    PaxDbi P51797.
    PRIDEi P51797.

    Protocols and materials databases

    DNASUi 1185.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000312413 ; ENSP00000308367 ; ENSG00000011021 . [P51797-3 ]
    ENST00000346436 ; ENSP00000234488 ; ENSG00000011021 . [P51797-1 ]
    ENST00000376496 ; ENSP00000365679 ; ENSG00000011021 . [P51797-5 ]
    GeneIDi 1185.
    KEGGi hsa:1185.
    UCSCi uc001ate.5. human. [P51797-1 ]
    uc009vnf.2. human. [P51797-2 ]
    uc009vng.2. human. [P51797-4 ]
    uc009vnh.2. human. [P51797-3 ]

    Organism-specific databases

    CTDi 1185.
    GeneCardsi GC01P011866.
    HGNCi HGNC:2024. CLCN6.
    HPAi HPA032097.
    MIMi 602726. gene.
    neXtProti NX_P51797.
    PharmGKBi PA26551.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0038.
    HOVERGENi HBG050985.
    KOi K05015.
    OMAi SLCCCCR.
    OrthoDBi EOG7D2FD0.
    PhylomeDBi P51797.
    TreeFami TF313867.

    Enzyme and pathway databases

    Reactomei REACT_160189. Stimuli-sensing channels.

    Miscellaneous databases

    ChiTaRSi CLCN6. human.
    GeneWikii CLCN6.
    GenomeRNAii 1185.
    NextBioi 35513050.
    PROi P51797.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P51797.
    Bgeei P51797.
    Genevestigatori P51797.

    Family and domain databases

    Gene3Di 1.10.3080.10. 2 hits.
    InterProi IPR000644. CBS_dom.
    IPR014743. Cl-channel_core.
    IPR001807. Cl-channel_volt-gated.
    IPR002248. Cl_channel-6.
    [Graphical view ]
    Pfami PF00571. CBS. 1 hit.
    PF00654. Voltage_CLC. 1 hit.
    [Graphical view ]
    PRINTSi PR00762. CLCHANNEL.
    PR01117. CLCHANNEL6.
    SMARTi SM00116. CBS. 2 hits.
    [Graphical view ]
    SUPFAMi SSF81340. SSF81340. 2 hits.
    PROSITEi PS51371. CBS. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family."
      Brandt S., Jentsch T.J.
      FEBS Lett. 377:15-20(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANT GLY-198.
      Tissue: Brain.
    2. "Alternative splicing of ClC-6 (a member of the ClC chloride-channel family) transcripts generates three truncated isoforms one of which, ClC-6c, is kidney-specific."
      Eggermont J., Buyse G., Voets T., Tytgat J., De Smedt H., Droogmans G., Nilius B.
      Biochem. J. 325:269-276(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 2; 3 AND 4), NUCLEOTIDE SEQUENCE [MRNA] OF 1-409 (ISOFORM 1), TISSUE SPECIFICITY, VARIANT GLY-198.
      Tissue: Chronic myeloid leukemia cell.
    3. "Complete genomic structure of the CLCN6 and CLCN7 putative chloride channel genes."
      Kornak U., Boesl M.R., Kubisch C.
      Biochim. Biophys. Acta 1447:100-106(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), VARIANT GLY-198.
    4. "Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1."
      Nomura N., Nagase T., Miyajima N., Sazuka T., Tanaka A., Sato S., Seki N., Kawarabayasi Y., Ishikawa K., Tabata S.
      DNA Res. 1:223-229(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT GLY-198.
      Tissue: Bone marrow.
    5. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
      Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
      DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: SEQUENCE REVISION.
    6. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 6), VARIANT GLY-198.
      Tissue: Brain and Hippocampus.
    7. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLY-198.
    9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT GLY-198.
      Tissue: Brain.
    10. "Expression of CLCN voltage-gated chloride channel genes in human blood vessels."
      Lamb F.S., Clayton G.H., Liu B.-X., Smith R.L., Barna T.J., Schutte B.C.
      J. Mol. Cell. Cardiol. 31:657-666(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
      Tissue: Aortic endothelium and Vascular smooth muscle.
    11. "Human ClC-6 is a late endosomal glycoprotein that associates with detergent-resistant lipid domains."
      Ignoul S., Simaels J., Hermans D., Annaert W., Eggermont J.
      PLoS ONE 2:E474-E474(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION, MUTAGENESIS OF ASN-410; ASN-422 AND ASN-432.

    Entry informationi

    Entry nameiCLCN6_HUMAN
    AccessioniPrimary (citable) accession number: P51797
    Secondary accession number(s): A8K1T4
    , B4DGT7, F8W9R3, O60818, O60819, O60820, O60821, P78520, P78521, Q17R81, Q5SNW2, Q5SNW3, Q5SNX1, Q5SNX2, Q5SNX3, Q99427, Q99428, Q99429
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: November 2, 2010
    Last modified: October 1, 2014
    This is version 137 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Miscellaneous

    The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The presence of conserved gating glutamate residues is typical for family members that function as antiporters By similarity.By similarity

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3